OBJECTIVE To evaluate whether germline variants of the succinate dehydrogenase genes might be phenotypic modifiers in patients with multiple endocrine neoplasia type 2. Mutations of genes encoding subunits of the succinate dehydrogenase are associated with hereditary paraganglioma/pheochromocytoma syndrome. Pheochromocytoma is one of the main manifestations of multiple endocrine neoplasia type ...

Carney complex (CNC) is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumours and psammomatous melanotic schwannomas. CNC is inherited as an autosomal dominant trait and the genes responsible have been mapped to 2p16 and 17q22-24 (refs 6, 7). Because of its similarities to the McCune-Albright syndrome and other features, such as pa...

Carney Syndrome (CS) is an autosomal dominant multiple neoplasia syndrome that includes cardiac, endocrine, cutaneous, and neural tumors. Cardiac myxomas can be seen in the course of CS. A 46-year-old female patient was admitted to our clinic with palpitation, cough, and exertional dyspnea. Physical examination revealed pigmented lesions, especially scattered in the neck, chest, and extremities...

OBJECTIVE Carney complex (CNC) is a rare autosomal dominant multiple neoplasia syndrome characterized by the presence of endocrine and non-endocrine tumors. More than 125 different germline mutations of the protein Kinase A type 1-α regulatory subunit (PRKAR1A) gene have been reported. We present a novel PRKAR1A gene germline mutation in a patient with severe osteoporosis and recurrent vertebra...

Introduction Carney complex (CNC) is a disorder characterized by skin pigmentary abnormalities and benign cardiac,endocrine, skin and neuronal tumors. Areas of unusual lentigines are the most common presenting feature of CNC usually around the lips, eyes or genitalia increase in number at puberty. Cardiac myxomas may occur in any or all cardiac chambers, and leading to intracardiac obstruction ...

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Introduction/Objective. Although cardiac tumors in the pediatric population are found infrequently, their occurrence is constant and with occasional variations. The purpose of this study to show our experience surgical options these masses two leading national university-level centers over four decades. Methods. This retrospective presenting a total number 24 surgically treated patients who hav...

Figure 1. Preoperative view of the right hand demonstrating a compressible mass just distal to the prior carpal tunnel release incision. The mass was painless and did not produce tingling or numbness on Tinel's maneuver.

BACKGROUND Germ-cell testicular cancer has not been definitively linked to any known hereditary cancer susceptibility disorder. Familial testicular cancer in the presence of other findings in affected and unaffected family members might indicate a previously-unidentified hereditary cancer syndrome. CASE PRESENTATION The patient was diagnosed with a left testicular seminoma at age 28, and trea...